ORPHA:2513
Microcephaly-albinism-digital anomalies syndrome
Synonyms: Castro Gago-Pombo-Novo syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-albinism-digital anomalies syndrome | Castro Gago-Pombo-Novo syndrome |
| fr | Syndrome de microcéphalie-albinisme-anomalies digitales | Syndrome de Castro Gago-Pombo-Novo |
| de | Mikrozephalie - Albinismus - Fingeranomalien | Castro-Gago-Pomto Novo-Syndrom |
| es | Síndrome de microcefalia-albinismo-anomalías digitales | |
| it | Microcefalia - albinismo - anomalie digitali | Sindrome di Castro Gago-Pombo-Novo |
| nl | Microcefalie - albinisme - digitale anomalieën-syndroom | Syndroom van Castro Gago-Pombo-Novo |
| pt | Síndrome de microcefalia-albinismo-anomalias dos dedos | Síndrome Castro Gago-Pombo-Novo |
| pl | Małogłowie - albinizm - wady palców | Zespół Castro Gago, Pombo i Novo |
| cs | Syndrom zahrnující mikrocefalii, albinismus a anomálie prstů | Castro Gagoův-Pombové-Novoův syndrom · Castro Gago-Pombo-Novoův syndrom |
| uk | Синдром мікроцефалії-альбінізму- аномалій пальців | Синдром Кастро-Гаго-Помбо-Ново |
| zh | 小头畸形-白化症-手指异常综合征 | Castro Gago-Pombo-Novo综合征 |
| tr | Mikrosefali-albinizm-dijital anomaliler sendromu | Castro Gago-Pombo-Novo sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203340 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008750 | E | validated | |
| MeSH | C537322 | E | validated | |
| UMLS | C1859910 | E | validated | |
| GARD | 3604 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 6660641[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6660641[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
8 annotations · validated 2017-08-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | |
| HP:0001263 | Global developmental delay | |
| HP:0001263 | Global developmental delay | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0009882 | Short distal phalanx of finger | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2513
- This record as JSON: /data/d/2513.json